ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.1034A>G (p.Tyr345Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003265967 SCV003968153 uncertain significance Inborn genetic diseases 2023-05-02 criteria provided, single submitter clinical testing The c.1034A>G (p.Y345C) alteration is located in exon 4 (coding exon 4) of the PKD2 gene. This alteration results from a A to G substitution at nucleotide position 1034, causing the tyrosine (Y) at amino acid position 345 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796794 SCV005416899 likely pathogenic Polycystic kidney disease 2 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PM5_Supporting+PS4_Supporting+PM6_Supporting+PP4

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